Canonical Allele Identifier: CA386493021

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103234230A>C (hg19) ; chr12:g.102840452A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840452A>C , CM000674.2:g.102840452A>C	GRCh38
NC_000012.11:g.103234230A>C , CM000674.1:g.103234230A>C	GRCh37
NC_000012.10:g.101758360A>C	NCBI36
NG_008690.1:g.82151T>G
NG_008690.2:g.122959T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1263T>G MANE Select	ENSP00000448059.1:p.Ile421Met
ENST00000307000.7:c.1248T>G	ENSP00000303500.2:p.Ile416Met
ENST00000551114.2:n.925T>G
ENST00000553106.5:c.1263T>G	ENSP00000448059.1:p.Ile421Met
ENST00000635477.1:c.367T>G
ENST00000635528.1:n.778T>G
NM_000277.1:c.1263T>G	NP_000268.1:p.Ile421Met
XM_011538422.1:c.1206T>G	XP_011536724.1:p.Ile402Met
NM_000277.2:c.1263T>G	NP_000268.1:p.Ile421Met
NM_001354304.1:c.1263T>G	NP_001341233.1:p.Ile421Met
NM_000277.3:c.1263T>G MANE Select	NP_000268.1:p.Ile421Met
NM_001354304.2:c.1263T>G	NP_001341233.1:p.Ile421Met